biostudies-literaturePerli EUK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and ChildrenNational Institute of Neurological Disorders and Stroke of the National Institutes of HealthSapienza Università di RomaMedical Research CouncilNINDS NIH HHSWellcome Trust5108https://www.ebi.ac.uk/biostudies/studies/S-EPMC6434145biostudies-literatureUnknown9(1)Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease. Here, we report an unusual presentation of mitochondrial cardiomyopathy, with dilated phenotype and pathologic evidence of biventricular fibro-adipose replacement, in a 33-year old woman who underwent cardiac transplant. Whole exome sequencing revealed two novel compound heterozygous variants in the TSFM gene, coding for the mitochondrial translation elongation factor EF-Ts. This protein participates in the elongation step of mitochondrial translation by binding and stabilizing the translation elongation factor Tu (EF-Tu). Bioinformatics analysis predicted a destabilization of the EF-Ts variants complex with EF-Tu, in agreScientific reportsNovel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.PMC6434145RP116154C89C41C2R01 NS083726G0800674203105/Z/16/ZGiordano CGlasgow RICd'Amati GPignataro MGCerbelli BFalkous GDella Monica PLHe LCarbo MHardy SABonnen PETaylor RWPerli EZacara EPisano AMorea VRe FfalseNovel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease. Here, we report an unusual presentation of mitochondrial cardiomyopathy, with dilated phenotype and pathologic evidence of biventricular fibro-adipose replacement, in a 33-year old woman who underwent cardiac transplant. Whole exome sequencing revealed two novel compound heterozygous variants in the TSFM gene, coding for the mitochondrial translation elongation factor EF-Ts. This protein participates in the elongation step of mitochondrial translation by binding and stabilizing the translation elongation factor Tu (EF-Tu). Bioinformatics analysis predicted a destabilization of the EF-Ts variants complex with EF-Tu, in agre2019-01-01T00:00:00Z2019 Mar2026-05-03T12:09:45.846Z2019-06-06T21:02:52ZS-EPMC64341453091103710.1038/s41598-019-41483-9